A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999689



Internal ID16945955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:14951167..14983766hg38UCSC Ensembl
Outerchr12:15104101..15136700hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3832600
hg1932600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951333
Supporting Variants
SamplesBILGI_BIOE
Known GenesARHGDIB, PDE6H
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999689
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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